Traits

Traits linked to MPDZ

multiple PDZ domain crumbs cell polarity complex component

The Human Phenotype Ontology links 30 traits to MPDZ, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Fewer or absent grooves in brain	Always
Too much cerebrospinal fluid in the brain	Always
Ventriculomegaly	Always
Epilepsy	Often (30–79%)
Agenesis of corpus callosum	Sometimes (5–29%)
Colpocephaly	Not recorded
Communicating hydrocephalus	Not recorded
Gray matter heterotopia	Not recorded
Intellectual disability	Not recorded
Motor delay	Not recorded
Simplified gyral pattern	Not recorded

Abnormality of the eye

Trait	How often it is seen
Birth defect that causes a hole in the innermost layer at the back of the eye	Often (30–79%)
Alternating cross eyes	Sometimes (5–29%)
Rotary nystagmus	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)
Optic atrophy	Rarely (1–4%)
Cat eye	Not recorded
Cross-eyed	Not recorded
Macular hypoplasia	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Big calvaria	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Abnormal facial shape	Not recorded
Bulbous nose	Not recorded
Downward slanting of the opening between the eyelids	Not recorded
Frontal bossing	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Right atrial enlargement	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Rarely (1–4%)
Ears rotated toward back of head	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to MPDZ and how often each is seen. Find out more at hpo.jax.org.

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test